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Results: 1 to 20 of 117

1.

Mutation analysis of COX18 in 29 patients with isolated cytochrome c oxidase deficiency.

Sacconi S, Salviati L, Trevisson E.

J Hum Genet. 2009 Jul;54(7):419-21. doi: 10.1038/jhg.2009.36. Epub 2009 Apr 17.

PMID:
19373256
[PubMed - indexed for MEDLINE]
2.

Mutation screening in patients with isolated cytochrome c oxidase deficiency.

Sacconi S, Salviati L, Sue CM, Shanske S, Davidson MM, Bonilla E, Naini AB, De Vivo DC, DiMauro S.

Pediatr Res. 2003 Feb;53(2):224-30.

PMID:
12538779
[PubMed - indexed for MEDLINE]
3.

Cytochrome c oxidase deficiency.

Shoubridge EA.

Am J Med Genet. 2001 Spring;106(1):46-52. Review.

PMID:
11579424
[PubMed - indexed for MEDLINE]
4.

Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene.

Papadopoulou LC, Sue CM, Davidson MM, Tanji K, Nishino I, Sadlock JE, Krishna S, Walker W, Selby J, Glerum DM, Coster RV, Lyon G, Scalais E, Lebel R, Kaplan P, Shanske S, De Vivo DC, Bonilla E, Hirano M, DiMauro S, Schon EA.

Nat Genet. 1999 Nov;23(3):333-7.

PMID:
10545952
[PubMed - indexed for MEDLINE]
5.

Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency.

Antonicka H, Leary SC, Guercin GH, Agar JN, Horvath R, Kennaway NG, Harding CO, Jaksch M, Shoubridge EA.

Hum Mol Genet. 2003 Oct 15;12(20):2693-702. Epub 2003 Aug 19.

PMID:
12928484
[PubMed - indexed for MEDLINE]
Free Article
6.

Studies of COX16, COX19, and PET191 in human cytochrome-c oxidase deficiency.

Tay SK, Nesti C, Mancuso M, Schon EA, Shanske S, Bonilla E, Davidson MM, Dimauro S.

Arch Neurol. 2004 Dec;61(12):1935-7.

PMID:
15596615
[PubMed - indexed for MEDLINE]
7.

Clinical, biochemical and molecular analyses of six patients with isolated cytochrome c oxidase deficiency due to mutations in the SCO2 gene.

Vesela K, Hansikova H, Tesarova M, Martasek P, Elleder M, Houstek J, Zeman J.

Acta Paediatr. 2004 Oct;93(10):1312-7.

PMID:
15499950
[PubMed - indexed for MEDLINE]
8.

Characterization of human SCO1 and COX17 genes in mitochondrial cytochrome-c-oxidase deficiency.

Horvath R, Lochmüller H, Stucka R, Yao J, Shoubridge EA, Kim SH, Gerbitz KD, Jaksch M.

Biochem Biophys Res Commun. 2000 Sep 24;276(2):530-3.

PMID:
11027508
[PubMed - indexed for MEDLINE]
9.

Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency.

Bugiani M, Tiranti V, Farina L, Uziel G, Zeviani M.

J Med Genet. 2005 May;42(5):e28.

PMID:
15863660
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Genetic defects of cytochrome c oxidase assembly.

Pecina P, Houstková H, Hansíková H, Zeman J, Houstek J.

Physiol Res. 2004;53 Suppl 1:S213-23. Review.

PMID:
15119951
[PubMed - indexed for MEDLINE]
Free Article
11.

High prevalence of SURF1 c.845_846delCT mutation in Polish Leigh patients.

Piekutowska-Abramczuk D, Popowska E, Pronicki M, Karczmarewicz E, Tylek-Lemanska D, Sykut-Cegielska J, Szymanska-Dembinska T, Bielecka L, Krajewska-Walasek M, Pronicka E.

Eur J Paediatr Neurol. 2009 Mar;13(2):146-53. doi: 10.1016/j.ejpn.2008.03.009. Epub 2008 Jun 26.

PMID:
18583168
[PubMed - indexed for MEDLINE]
12.

Adaptation of respiratory chain biogenesis to cytochrome c oxidase deficiency caused by SURF1 gene mutations.

Kovářová N, Cížková Vrbacká A, Pecina P, Stránecký V, Pronicka E, Kmoch S, Houštěk J.

Biochim Biophys Acta. 2012 Jul;1822(7):1114-24. doi: 10.1016/j.bbadis.2012.03.007. Epub 2012 Mar 20.

PMID:
22465034
[PubMed - indexed for MEDLINE]
Free Article
13.

Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency.

Böhm M, Pronicka E, Karczmarewicz E, Pronicki M, Piekutowska-Abramczuk D, Sykut-Cegielska J, Mierzewska H, Hansikova H, Vesela K, Tesarova M, Houstkova H, Houstek J, Zeman J.

Pediatr Res. 2006 Jan;59(1):21-6. Epub 2005 Dec 2.

PMID:
16326995
[PubMed - indexed for MEDLINE]
14.

Sequence analysis of the structural nuclear encoded subunits and assembly genes of cytochrome c oxidase in a cohort of 10 isolated complex IV-deficient patients revealed five mutations.

Coenen MJ, Smeitink JA, Pots JM, van Kaauwen E, Trijbels FJ, Hol FA, van den Heuvel LP.

J Child Neurol. 2006 Jun;21(6):508-11.

PMID:
16948936
[PubMed - indexed for MEDLINE]
15.

Genotypes and clinical phenotypes in children with cytochrome-c oxidase deficiency.

Darin N, Moslemi AR, Lebon S, Rustin P, Holme E, Oldfors A, Tulinius M.

Neuropediatrics. 2003 Dec;34(6):311-7. Review.

PMID:
14681757
[PubMed - indexed for MEDLINE]
16.

Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency.

Péquignot MO, Dey R, Zeviani M, Tiranti V, Godinot C, Poyau A, Sue C, Di Mauro S, Abitbol M, Marsac C.

Hum Mutat. 2001 May;17(5):374-81.

PMID:
11317352
[PubMed - indexed for MEDLINE]
17.

Unusual clinical presentations in four cases of Leigh disease, cytochrome C oxidase deficiency, and SURF1 gene mutations.

Tay SK, Sacconi S, Akman HO, Morales JF, Morales A, De Vivo DC, Shanske S, Bonilla E, DiMauro S.

J Child Neurol. 2005 Aug;20(8):670-4.

PMID:
16225813
[PubMed - indexed for MEDLINE]
18.

Human SCO1 and SCO2 have independent, cooperative functions in copper delivery to cytochrome c oxidase.

Leary SC, Kaufman BA, Pellecchia G, Guercin GH, Mattman A, Jaksch M, Shoubridge EA.

Hum Mol Genet. 2004 Sep 1;13(17):1839-48. Epub 2004 Jun 30.

PMID:
15229189
[PubMed - indexed for MEDLINE]
Free Article
19.

Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2.

Sue CM, Karadimas C, Checcarelli N, Tanji K, Papadopoulou LC, Pallotti F, Guo FL, Shanske S, Hirano M, De Vivo DC, Van Coster R, Kaplan P, Bonilla E, DiMauro S.

Ann Neurol. 2000 May;47(5):589-95.

PMID:
10805329
[PubMed - indexed for MEDLINE]
20.

SURF1 gene mutations in three cases with Leigh syndrome and cytochrome c oxidase deficiency.

Moslemi AR, Tulinius M, Darin N, Aman P, Holme E, Oldfors A.

Neurology. 2003 Oct 14;61(7):991-3.

PMID:
14557577
[PubMed - indexed for MEDLINE]

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